Wow new skills

Raphael loves to show off and when there is a big audience he is at his most adventurous. He has to get over the initial shy factor first but then watch out for exciting new things from him.

On this one extended family gathering Raphael signed Hearing aid when it was whistling.



He then demonstrated how to push it in to stop the feedback.







And then to everyone's amazement he stood up! Well only for a split second, but it was the first time that he had even tried to do it. He tried again and again until he managed to be on two legs for two seconds. After that it became a game to intentionally fall over and then laugh so that was the best he managed for that day.

I have finally updated the sydney trip post

For those of you who have been waiting patiently for the Sydney trip post to be updated, your lucky day has come. http://raphaelincharge.blogspot.com/2007/11/trip-to-sydney.html has been updated and I ave added a number of photos for the last three months of posts.

Computer expert

Check out his developing strength and balance allowing him to push up onto his tipi-toes. The Paediatric CHARGE specialist, that we saw on our Sydney trip, referred to his gross motor development as remarkable.

Dear Teacher

An example of Raphael's vision and gross motor development

Another leaking ear inefction

Raphael's chronic ear infection is leaking scum again, this time it is particularly thick, dark and bad smelling but he is still in a good mood and so does not appear to be in any pain at all. His hearing aid is not clogging up with this because I think that it is too thick.

General status summary

I think that it would be a good idea to have a general update for those people who want to know what is going on with Raphael.

He used to have a sticky eye problem with narrow or blocked tear ducts but that seems to have gone away now. He uses his vision well even though his left eye has no central vision at all. His vision has been tested as 6/30 in his right eye (where 6/6 is the equivalent of 20/20), this is normal for his age and his right eye is expected to improve. Every ophthalmologist has told us that his left eye will not improve even with patching "occlusion" but we are trying it anyway (for about an hour a day) because I have read a couple of articles that suggest that there might be hope even when there is severe eye malformations.

He still has frequent copious secretions from his nose that need regular wiping attention.

He is still unable to swallow anything lumpier than a fine purée. Anything lumpier will send him into a choking coughing fit that ends in a vomit.

He still suffers from sleep apnoea at night (stopping breathing). But when he is connected to his CPAP machine this entirely prevents the problem.

It is planned for him to have surgery to have his adenoids and tonsils removed which is expected to reduce, or even possibly cure, his sleep apnoea. This is still waiting for our ENT doctor's approval but this is expected to be a formality. We have our next ENT appointment on 17/1/2008.

Raphael is no longer using a feeding tube and has been eating enough to keep his paediatrician very happy, even though his dietician isn't always in the same mind.

His hearing seems to be worse than first expected but his hearing aids are serving him well at the moment and he is starting to try to copy words that we say. We have finally found a way to keep his hearing aids in and have much less feedback which is good. He has been having very frequent colds and these infections can cause his grommets to extrude gross puss from his right ear. This is his best ear for hearing but unfortunately his hearing aid keeps getting clogged and so does nothing for him.

Raphael's talking seems to be poor for his age, he still mainly only vocalises grunts. Having said this, his communication skills are excellent. He always makes his desires clear with body gestures, noises and props. In fact I would go as far as to say that his communication skills are so good that we can probably start to work on some of the more detailed skills of communication such as negotiation. This is a good thing because it is safe to say that Raphael's negotiation skills are extremely poor.

An early intelligence assessment test has shown that Raphael has cognitive abilities in line with his age. This is not a precise test but can give some indication of his mental skills.

Raphael can crawl very skilfully now, climb up on furniture that is not too high, cruise around furniture and transfer to different objects, walk with someone holding onto him, or using a trolley, and stand as long as he has a third point of reference (whether it be holding something or leaning up against something). I think that the next stage of standing unaided will be the real challenge because he has no depth perception and his balance organ (vestibular semicircular canals) are completely malformed.

Raphael's fine motor skills have advanced considerably. Initially he was diagnosed as "delayed" then after some time "slightly delayed" and recently his OT said that he was now "advanced".

Raphael still experiences parasomnias where he sits up in his sleep. He has started to also do other things in his sleep which are more annoying such as incessantly screaming (presumably night terrors), he sometimes stops if we turn him to another side or turn his CPAP off and back on again, but not always. He also sometimes pulls off his oxygen monitor in his sleep, this is a real pain because then an alarm sounds and inevitably he makes such a mess in getting it off that it takes us quite a while to get it sorted again before we can put it back on him again. It is nice that it is summer though, it is easier to get up at least three times a night when it is warm rather than cold. The frustrating thing is that he happily sleeps through the whole night, it is only becuase of his "beeping" equipment (pun intended) and sleep screaming that we are woken up.

Speaking a word for a goal

Today Raphael said "U! u! u! u!" (as in "Up up up up') indicating tghat he wanted to be lifted up to his high chair.

This is the first time that he has said an understandable word (not just a grunt) to ask for something that he wants.

Advanced fine motor skills

Raphael has been improving his fine motor skills lately. So much so that this Occupational Therapist has gone as far as to say that his fine motor skills are now advanced for his age.

This is amazing. He started off with people calling him delayed, then slightly delayed. We were then warned that his development will be adversely effected by him not being able to participate in eating finger foods. But now his OTs say that he is advanced for his age.

We have ready that early intervention is very successful for CHARGE kids and it is nice to be able to say that Raphael is turning out to be one of these success cases.

Well done my boy!

Meeting a lovely CHARGE family

By chance, someone at our church was taking with one of their work mates and found out that they had a child with CHARGE syndrome over 10 years ago. Unfortunately the child only lived four months but he has left a lasting memory with the family.

Today we were blessed with the opportunity of meeting with the family. They were lovely and showed us an album of photos that they had of their child. We talked for hours and we look forward to an oportunity to see them again.

I believe that the probability of knowing someone, who knows someone that has CHARGE syndrome are quite high. If I assume that I know one hundred people and each of those people knows another one hundred unique people then I calculate there to be 64% chance that one of those people will have charge syndrome. Calculated as follows

n=assumed number of unique people an individual person knows
=100

c=assumed chance of having CHARGE syndrome
=1/10,000

h=chance of knowing at least one person who has CHARGE syndrome
=sum[i=1 to 100] c*(1-c)^(i-1)

k=chance of knowing at least one person who knows at least one person has CHARGE syndrome
=(sum[i=1 to 100] h*(1-h)^(i-1))+h

I hope you can forgive my make-do mathematics without access to the necessary symbols and positioning.

Quick visit from a new home care nurse

We had a quick visit from one of the new home care nurses just to check up on Raphael. It was nice to meet someone from the new team.

High temperature, vomiting and a little surprise

Last night at 10:30 Raphael became extremely restless while sleeping and it turned out he had a fever (39 degrees).

we gave him some panadol and he was so thirsty that we gave him some hydralite but after only 15ml of the hydralite he vomited everything up. We wanted to give him another dose of panadol because he had ejected it all but we weren't sure if it was safe, we didn't want to overdose him on paracetamol.

To find out if it is ok to give another dose if the first one is vomited out we called the new home care nursing team but we knew that they closed well before 10:30 and so we weren't surprised when there was no answer. We then called the 24 hour doctor telephone service available in Hobart. This was the first time that we had called this service for Raphael and after the nurse gathered some information from us over the phone, she asked us if we wanted an ambulance or to take him into the hospital emergency room. We didn't think that he needed to go to the hospital but this is the usual reaction for medical professionals who hear/see Raphael when he is a little sick. After getting a very brief medical summary, she referred us to a doctor and he told us that it would be ok to give Raphael another dose of panadol if he had vomited the previous dose out within 25-30 minutes of it being given.

He said that it was "refreshing to hear" when we said that we didn't want to bring Raphael into hospital whenever he is sick or we would be going there every week. From looking at him this time though I quietly thought that we might end up bringing him into hospital later that night; he had slight respiratory distress and he oxygen saturations were 90-91 when on CPAP instead of his normal high 90s. If he got any worse then I was going to bring him in. The previous night I was woken up 5 times by Raphael. I needed sleep but it didn't look like I was going to get much sleep that last night either so I mentally prepared myself for another sleepless night in the emergency room. I got to sleep at about 12:30 after monitoring him for a while and he woke up at 5:30. That was much better than I expected.

He is bright as a button now and this morning while watching me prepare his breakfast he even said and signed "more" without any prompting from me. His nose is runnier than normal but I don't think that we will be taking him to the emergency room today.

Development and vomit

Raphael has done some new things. He is getting over his sickness finally and has been trying out a new sign and a new sound. He can now say "ooooo" and can copy us when we sign "more" although I dont believe that he knows what it means.

On another note I have somethign to complain about. As a general rule we try to feed Rapahel as much food as possible, but if he eats too much too quickly then he vomits. So it has become an art form to determine whether he has eaten too much recently. Today, recently, we decided that he had eaten enough for the time being but for the first time I can remember he wanted to eat more. We didn't want to risk giving him more and so we refused to give him anything. Unfortunatelly this made him upset and when he gets upset he can go into a coughing fit and when he goes into a coughing fit he is very likely to vomit; this is exactly what happened. So in an attempt to prevent him from vomiting, we caused him to vomit. That was so frustrating!

Some developmental skills

Raphael has learned two new signs:

• "yummy" and
• "hearing aid"

He uses yummy usually when we feed him something from a spoon, particularly if it was something from our plate/bowl rather than something from his own bowl. He uses "hearing aid" whenever we are about to put his aids in. The problem with this is that his hand is in the way.

He is responding quite well to verbal communication while he is wearing his hearing aids but will only verbalize language with grunts rather than pronounceable words or syllables.

On the down side his left ear's hearing seems to have become significantly worse since the gromet insertion (90db loss) this places his left ear in the severe to profound hearing loss category. It is our fear that because it seems to have become worse, it may continue to degrade in the future.

Also at the moment his right ear's grommets are leaking quite a bit of goop which keep on clogging up the hearing aid molds making them useless. We have become quite proficient in cleaning them but it is not a pleasant task to extract a thick glob of puss from the mold tube.

The boiling tube

Last night a peculiar rattling sound emanating from Raphael's equipment woke us up. It turned out to be condensation in the tube that had built up over night into a small puddle in a loop of the tube. The air blasting past the puddle of water was making it gurgle.

We emptied the tube and turned the humidification setting down a notch to see if that solves the problem. I guess we'll find out tomorrow night.

Video conferencing at home

Today two guys have come to install a video conferencing unit in our home so we don't have to go to Australian hearing to use their unit. This will be really good for us because we wont have to get baby sitters every Friday and it is one less time per week that we have to go out for our appointments with Raphael.

RIDBC are fully funding the unit. I can scarcely believe that they are willing to fund this. It is costing them a fortune in start up and ongoing costs.

Paediatrician and paediatric intensivist

Today we had a paediatrician review to discuss the Sydney trip but we weren't really ready. We only had two letters and we had not gone through any of the recordings yet to consolidate our understanding of what we had learned in Sydney.

The paediatrician was impressed by the size of Raphael's tonsils and wants us to see our ENT to discuss removal again. She would like to wait until Raphael is over his current infection though.

While we were there we managed to see Raphael's intensivist who showed us how to setup the humidifier on Raphael's CPAP machine and also gave us the ability to make minor changes to the pressure if Raphael needs it. We also discussed the possibility of using the "AutoSet" feature on the CPAP machine but decided against.

Raphael does not like to touch grass

And my wife needed a way to remind me that it was time to mow the lawn

Trip to Sydney

We traveled to Sydney from 16/10/2007 to 31/10/2007 to get some second opinions from medical paediatric specialists and educational specialists who had dealt with CHARGE syndrome.

It would have been nice to be able to say that we had a nice vacation but in reality it was really hard work. The hardest bit by far was transport. We were kindly hosted by RIDBC in a fabulous four bedroom house that they allowed us to use while we were there. But this location is not near a train station and to get to our appointments, that weren't at RIDBC, we had to catch a bus to the nearest train station, catch a train to the city and then transfer to another train or bus to get to where our appointment was. This usually took between 2.5 to 3 hours one way and after over five hours travel each day we were exhausted. The furthest we travel in Hobart is 20 minutes so this was a bit of an adjustment for us. When I have previously stayed in Sydney I have been near a train line and I have only traveled into the city which was really easy and fast. Because of this past experience, I wasn't prepared for long travel times. We had even made some 9:30am appointments; I don't know how we managed to get to them on time.

While we were there we saw:

• Medical Specialists:
• Paediatric Cardiologist
• Paediatric ENT
• Paediatric Ophthalmologist
• Paediatric Sleep Specialist
• Paediatrician
• General Practitioner
  

• Education and Allied specialists
  
• Teacher for the deaf and blind
• Specialist teacher for learning to hear
  
• Orthoptist
• Educational Psychologist
• Occupational Therapist
• Preschool teacher for the hearing impaired and Auslan signing
• Preschool teacher for the vision impaired
• Playgroup leader for hearing impaired children
  

• We also met with some "CHARGE families" (families with a member who has CHARGE syndrome). Thanks to Stephanie and Angela who made an extra special effort to meet with us. Stephanie also has a blog. Pictured to the right are photos "Oscar and Raphael" and "Stephanie and Raphael".
  

(I hope I haven't missed anyone out)

We selected all of the Medical specialists based on recommendations from other CHARGE families. It was comforting to see doctors who said "I have seen children with CHARGE syndrome before" rather than "CHARGE association... hmm, I've heard of that". Actually there was one exception to this, the GP that we saw in Sydney hadn't heard of CHARGE syndrome at all. We weren't planing on seeing a GP but of course Raphael (and the rest of us) got sick while we were there. It didn't matter that the the GP didn't know about CHARGE syndrome; he checked Raphael's lungs, airway and ears which was all that we needed.

The following is a compilation of the topics that were covered with the relevant specialists. This has taken me ages to compile (I actually only added this list to the post in very late December)

Topics covered with the ENT (Ear, Nose and Throat surgeon)

• hearing (and getting worse), current hearing aid solution good at this time.
  
• CPAP, sleep study and airway issues, also associated with tonsils
• poor feeding and regurgitation
  
• possibility of seeing gastroenterologist
• good nasal passages
• good teeth
• medications
• improvement over time
  

Topics covered with the Ophthalmologist (eye surgeon)

• extensive left eye coloboma
• right eye coloboma
• lots about patching (ocular occlusion)
• eye pressure
• retinal detachment
• photographing colobomas
• Raphael's general vision capabilities
• eye conditions associated with CHARGE syndrome

Topics covered with the Cardiologist (heart doctor)

• PFO/ASD
• aberrant left subclavian artery

Topics covered with the Paediatrician (CHARGE specialist)

• Raphael's complete medial and developmental history, conditions and diagnosis including:
  
• Notable test results
• Stridor
• funny right ear
• hearing loss
• poor weight gain
• low set ears
• short neck
• facial weakness
• hearing loss
• physical skills
• speech/communication
• ear infections
• pneumonia, choking and aspirations
• CPAP and sleep
• PFO
• Need for thyroid test
  
• Infections
  
• Grommets
• Vestibular dysfunction (balance)
  
• How to go about getting testing for the CHD7 gene
• Need for continued early intervention including total communication (signing and verbal)
• Specialists we are seeing in Sydney
• Other incidence of CHARGE in Tasmania
• Good prognosis

Topics covered with the Thorasic Surgeon (and sleep specialist)

• CPAP pressures and variable pressures
• Tonsils and adenoids
• Need for a sleep study (better after removal of tonsils and adenoids)

The most notable medical outcome of the trip is that were are almost certainly going to have Raphael's tonsils and adenoids removed to help with his breathing while sleeping.

The education and allied health specialists at RIDBC gave us excellent information while we were there including:

• how to test Raphael's responsiveness to the ling sounds
• how to incorporate a communication programme to teach both signing and verbal skills
• visual skill testing

We are still waiting for the written combined services report (as of 27/12/2007) but my wife has talked with them about their observations over the video conferencing facility.

We did have a couple of days when we could do some sight seeing for the kids. But don't think that Raphael got to fully appreciate the 3D IMAX theater, given his monocular vision. Even 3D glasses won't let him see in 3D.

Discharged

Raphael was fine last night and he was discharged this morning. We took him home and will go back later in the day to pick up his prescription of Amoxycillin and Prednisolone.

Endocrinologist, dietician, paediatrician and hospitalisation

Raphael had his first endocrinologist appointment today. There were no surprises, but it is good for us to hear from the specialist. We will have a thyroid blood test at some time but this is not urgent.

While we were waiting for the the endocrinologist we managed to see Raphael's dietician and we were able to adjust his feeding script that we receive from the hospital to reduce the amount of Nutrini and increase the amount of solids fortification (PediaSure).

Raphael had lots of coughing yesterday afternoon so while we were in the clinic we also asked to see a paediatrician to just check his lungs and make sure that he was ok. He had a temperature of 40.9c! He didn't seem to be that sick to look at him but apparently he was cooking inside.

The paediatric registrar had a look at him and his lungs sounded clear, which is good, but his tonsils were really swollen. Any other child would have been sent home but because he is complicated the registrar phoned Raphael's regular paediatrician and when she came in to have a look at him, she ordered him to the ward for the night. His tonsils were so swollen that she was concerned that may exacerbate his sleep apnoea and so wanted him to be constantly monitored overnight.

He was written a script for Penicillin (to treat any possible bacterial tonsillitis infection) and Prednisolone (to reduce the swelling of his tonsils). Of all the drugs in the world I would have thought that penicillin was probably the most well known, well maybe apart from Viagra. But the hospital didn't have any Penicillin. Isn't that kind of like the cheese shop sketch? Oh well the doctors said that Amoxycillin would be fine in this instance and so he was given that instead.

Organisations that we have approached for support and/or concessions

(originally compiled: 24/5/2007, added to: 8/8/2007 and 12/10/2007)

If having a disabled child wasn't enough work for you, then trying to find support and services to help your child adds to that load.

Initially it was hard to find any organisations that provide support because we didn't have a starting point. Then near the end of our journey of searching for support we came across an organisation that provided a large list of support organisations. It took Annie days to go through the list to try to decide which ones she would focus on calling. It then took days for each of these organisations to assess whether we qualified for the support that they would provide. We still haven't contacted all of the organisations yet and I think that we are still waiting to hear back from some of them that started their assessment of Raphael weeks ago.

Here is the list of organisations that we are utilising services and/or receiving concessions from.

National and international services:

• Australasian Charge Syndrome Association of Australasia. I have recently become a director of this organisation. The dedicated volunteers that work for it, organise events for awareness, fund-raising, conferences, and activities that can enrich the lives of people/children with CHARGE syndrome. While not wealthy, this organisation finds a way to maintain free membership for CHARGE affected individuals (and parents) while even providing some small financial assistance for its members in certain circumstances. Contact details for your local representatives can be found http://www.chargesyndrome.org.nz/contacts.html.
• Association for Children with a Disability. The website seems to be primarily for the Victorian branch but there is a Tasmanian branch and a Hobart office in Bathurst Street. I am sure that I have not fully realised the benefits that this organisation has to offer but the one thing that we have used from them was their fantastic list of service organisations. It is worth contacting them to obtain this publication called "Through the Maze - A guide through the maze of services for parents and children with a disability".
• Australian Hearing. Australian hearing is a national government service that provided the hearing aids that Raphael is using. These devices cost thousands of dollars so I am very happy that we get them for free. Look for your local branch here: http://www.hearing.com.au/findus.
• Centrelink. CHARGE syndrome automatically qualifies the carer of that person to receive a carers allowance from the Australian government. If the person in question has a disability severe enough and the carer's income is low enough then they may also qualify to receive carers payment. I have found that dealing with this organisation is a significant challenge. One tip that I have is if you don't like the answer that you are given when you call them, then call them again another day and ask the same question to see if you get a new answer that you like better. Keep trying this until you get an answer you like. The financial assistance that they provide is fabulous. If you qualify for Carer's Payment then you also qualify for a concession card.
• RIDBC (Royal Institute for Deaf and Blind Children). For us this service has taken a teacher consulting role with experts in deaf and blind children available to give advice for Raphael's development. They also send us toys to borrow that are tailored to get Raphael's interest and extend his development. The teaching/consultation sessions are done via teleconference at Australian Hearings Hobart campus. RIDBC's contact details can be found http://www.ridbc.org.au/aboutus/contactus.asp.
• Gymbaroo. This is a privately run pay-for-service activity that is like a playgroup with specific activities and equipment designed to stimulate a child's development. There is a national website here: http://www.gymbaroo.com.au/
• The Companion Card programme. To quote their website: "The Companion Card allows people with a profound disability, who require attendant care for the rest of their lives, to participate in community activities and events without discrimination. Companion Cards can be presented at participating organisations where cardholders will not be required to pay an admission fee for their companion who is providing attendant care." Unfortunately not all states and territories participate in this programme at the moment. Only Victoria, Western Australia and Tasmania currently issue and honor the card.
  

Tasmanian Services:

• Department of Infrastructure, Energy and Resources Transport Division. This Tasmanian government department is the managing body for disability parking permits. We have found that the disability parking permit has been very helpful with regards to parking near the hospital when Raphael needs to be brought in multiple times per week. They also have a reduced fee for car registration and MAIB (Motor Accidents Insurance Board) premiums for concession card holders.
  
• Early Learning Tasmania. Early Learning is part of the Tasmanian Department of Education and provides an amazing service for children below school age. They have an excellent array of services from therapies to consultations with specialist teachers and all with excellent flexibility with regards to the time that they provide the service and the location. Incidentally they have had a name change ad are now called "Early Childhood Intervention Service".
  
• Calvary Health Care Children's Therapy Services. This is an outsourced service from the Tasmanian health department. They provide physiotherapy, occupational therapy, and speech therapy for Raphael. This service is quite different from the Early Learning service in that Calvary is geared up from a health and physical development perspective where as Early Learning has an education focus. There is some peculiar rule that means that we are not supposed to utilise both services at the same time so we are going to have to choose one of them over the other. The only explanation that I can think of for this strange rule is that the governing bureaucrats must have little idea of what is actually happening in the therapy services for children.
• Home Care (home and community care - HACC). HACC is jointly funded by federal and state governments. Here is the website for federal information. We get domestic cleaning assistance from here which frees us up to spend more time with Raphael.
• Community Based Support (south). This organisation receives funding from HACC. We receive limited respite assistance from here because this organisation is low on funding, but it has been very good for Annie. We have also utilised a gardening and spring cleaning service from this organisation, which was well needed, because cleaning was one of the first things to be dropped with Raphael's time demands.
  
• Disability Services. This is part of the Tasmania's government health department. Raphael has been accepted as a client of Disability Services and they have been instrumental in organising ongoing respite. We are also in the process of applying for a home improvement to help Raphael once he starts to walk (a rail for our front steps)
• Early Support for Parents. This is a volunteer home visiting service that helps "anyone with the care and responsibility for children, especially families experiencing stress". They don't seem to have a web presence but they have some contact details here: http://www.police.tas.gov.au/community/child-protection/parenting-support
  
• Aurora Energy. Aurora is the electricity service provider Tasmania. Holders on a concession card receive a power bill concession if you apply for it. They also provide a concession for people who use certain types of medical equipment in their home.
  
• Department of Treasury and Finance. This Tasmanian government department claims to provide land tax exemptions to concession card holders. We have not realised this benefit yet becuase we did not hold the concession card at the time that our last land tax was payable.
• Royal Hobart Hospital (RHH). Raphael was born in Calvary hospital which actually made it a little difficult with regards to leveraging some of the RHH outpatient services. Fortunately our Paediatrician pulled some strings and made it possible for Raphael to use the services from RHH. The professional staff (consultants, registrars, therapists and nurses) devote an amazing level of care and time for Raphael and us.
• Hobart City Council. Our local city council provides parking concessions in the city car parks for holders of concession cards. This has saved us a lot of money because the Argyle Street car park is the only practical parking solution for when we go to the Royal Hobart Hospital. HCC also give property rates concessions to concession card holders.
  

I suspect there are more services that we receive that I have forgotten about while making this list.

First dentist visit

Raphael had his first dentist visit today. They talked about:

• the possibility of brown adult teeth because of repeated high temperatures,
• he has an obvious under-bite
• seems to have a flat nose ares (possibly due to CPAP mask?)
• any major dental work will probably have to be done under general anaesthetic because of the risks associated with his possible ASD (heart defect).
• to reduce the chance of major dental work it will be a good idea to apply a protective layer over his teeth when he is older.
• frequent visits (every 3 to 6 moths) will be beneficial to make sure that we catch any problems early and also to get Raphael comfortable at the dentist.
  

Successful applciation for companion card

Our previous application for a companion card for Raphael has been accepted and granted. We have an interim letter and we are just waiting on the official card to be printed and sent to us.

(yay)

Paediatrician and travel help

We went through a good list of questions today with Raphael's paediatrician. Just like me she is very happy with his weight gain and general appearance. Fortified feeding is still required but tube feeding is no longer being considered (which is great news). I believe that this marks the end of the "no NGT trial" and that we can call it an outstanding success.

We are giving ourselves a great big pat on the back for all the hard work that we have done but also not forgetting to praise God for this amazing turn around that no-one predicted.

After the paediatrician appointment we went to see the guy in the hospital who manages the travel support for assisting us to travel to Sydney. We were careful to clearly explain the travel and accomodation support that we will receive from other places because we don't want to "double dip". The hospital is going to be very helpful for us financially as they are willing to cover some of our taxi trips which looked like they were going to be more expensive than our air tickets.

Final weekly weighing (10.5kg)

Raphael has been doing so well that I have decided that this will be his last weekly weighing. He weighed 10.5kg today which is no increase from last week but he has been sick and his weight is still excellent so I am not worried about this.

Mini gastro bug

Raphael had a small vomiting session this evening which looks likes he has caught the gastro bug that has been progressing though our family. My wife is the last remaining non-vomiter in the family but she is complaining of not feeling very well either so I don't know if she will last the night without a trip on the porcelain bus.

The good news is that it seems to only last one or two days so I think that he will be over it soon.

ENT followup

We had a follow up with Raphael's ENT today. The grommets are still in and his ears are dry and without infection.

We discussed the possibility of repeating an ABR test (an objective hearing test) because the hearing in his left ear appears to have become worse since the grommets. We are not sure if this will proceed though because even if it does, there is nothing that can be done short of inserting cochlea implants. Raphael's left ear is still too good (at 90db loss) to warrant/risk a cochlea implant (usually reserved for 100db+ loss)

I wonder if his hearing will improve when the grommets extrude. The ENT doesn't let us record her consultations unfortunately so I can't remember precisely what she said. From memory I think that the ENT said that hearing loss incurred from ear surgery is not expected to return, but any such hearing loss, in grommets insertion cases, is rare and minimal (10db at most). At the moment I think that the ENT believes that the apparent huge drop in observed left ear function (40 to 90db loss) is actually the result of erroneous readings prior to the grommets insertion.

It is so hard to test Raphael's hearing because there is such a limited time when he is at his optimum (ie when he is not eating or sleeping/tired) and if that doesn't fit into the completely inflexible window that Australian hearing are able to schedule, then it is a battle to get any meaningful hearing testing out of him. We knew it was important for children to be able to hear from a young age, but even with our persistence, I believe that we have still not had all of the hearing tests that could be done to provide Raphael with the best chance of hearing. On one hand it is fabulous to see that our country provides these services for us, but on the other hand it is frustrating that it is not funded adequately to provide the services in the necessary timely manner.

I am so proud of his weight gain (10.5kg)

He now weighs 10.5kg which is a 70g increase in the last week!

You are doing well, keep on eating son.

The blind receive sight!

We purchased some eye patches at the chemist today and patching his left eye has been an amazing experience. Unlike our previous patching experiences, where he just sat still and cried, this time he wanted to explore and actively grabbed things with his hands. Of course he is not as accurate as with his right eye.

I had prepared some toys that made noises so that they might have been able to draw his attention to them but he was not particularly interested in them. He happily found all sorts of things to play with. We found that he seemed to be able to see quite small things so we started to test to see exactly what he could see. We put smaller and smaller objects on his play surface, until he could not see them any more. We found that he could even see coco pops. The only test that he failed was that he could not see white grains of rice on the pink blanket; having said that, my wife could not see them either though.

This has taken us completely by surprise. We thought he was almost completely blind in his left eye but he has shown amazing prowess with it.

This has reminded me of a passage form the bible - Luke 7:22:

So he replied to the messengers, "Go back and report to John what you have seen and heard: The blind receive sight, the lame walk, those who have skin diseases are cured, the deaf hear, the dead are raised, and the good news is preached to the poor.

His left eye seems to be much better than before, his gross motor skills still improving (although he is not yet walking), his eczema has cleared up, he is still deaf (I expect God is still working on this one), and he is not dead.

I send my appreciation and admiration to all of Raphael's doctors, nurses, therapists and teachers. Your skills and hard work are improving my son's quality of life.

Ophthalmologist

The ophthalmologist review today was mostly done by a registrar at the hospital. We talked about the possibility of probing his tear ducts again but because we are still paranoid about Raphael having general anaesthetics we declined the offer.

We obtained some information about eye patching to see if we can improve the vision in Raphael's left eye. Both the consultant and the registrar didn't think that there was any real hope for getting vision out of Raphael's left eye though.

Wow (10.43kg)

Raphael's paediatrician is going to be very happy with him the next time she sees him. He has put on 70g in the last week.

He is becoming less and less interested in the special formula (Nutrini) that we feed him and now it is common that he takes the bottle and gives the teat one lick before giving it back to us. I can't blame him for it, it tastes terrible! One person commented "I thought it was for tube feeding only, I didn't think anyone would take it by mouth"

To make sure he is getting adequate nutritional content, we have been adding scoops of regular baby formula (S26); we have been adding it to his purées in just slightly less proportion to that recommended to be added to water. Because he is taking less fluid we are a little concerned about whether he is getting enough water. He seems happy enough and I haven't seen any signs of dehydration yet, but I will be asking the dietician about this the next time we see her.

new hearing aid

The new hearing aid is a bit of a pain. It is really quite large and it's curved shape means that it is hard to get the double sided tape to stick to both it and his head. The combination of this larger aid, his low set ears, and having almost no neck makes securing this hearing aid in place to prevent feedback extremely difficult. Fortunately the new left ear mould is a really good one so it is compensating a bit for the difficulties we are having with the device itself.

I originally thought that the old hearing aids were a bit annoying in that the battery compartment had to be opened to turn off the aid. Annie soon learnt a trick that meant that we didn't have to use the supplied tool to open the battery door but we were still looking forward to the possibility of a new aid with a better "turn off" mechanism.

However, the new aid has turned out to be even more annoying in this area. It has a special little battery door lock that can only be undone with an extremely fine screwdriver. Only the tiny screwdriver that comes with the hearing aid is small enough to undo the lock, even my jewellery screwdriver set doesn't have a small enough screwdriver to operate the lock. In my attempts to find a way to operate the lock without the screwdriver, I think I have managed to break it. It now seems to open and close easily regardless of whether it is locked or not (oops). Oh well at least I have solved one problem.

GP appointment today

Annie took Raphael to our GP today to arrange:

• five doctor referrals for our Sydney trip,
• completing a clearance to fly form that the airline requires,
• eighteen month old vaccination, and
• the "blue book" eighteen month check.

For international readers, and people without children, the "blue book" is a small blue folder that is issued to every baby at birth which contains some very basic baby parenting information and a place for medical history for the baby. There are recommended check-up dates for the children and a list of things to check off, to confirm that your baby is developing at a reasonable rate. The idea being that if there are any areas of concern, they would be highlighted by the checks in this book. Our GP didn't think that it was necessary for this check because everything that was in there has already been identified as being a problem and is being managed in detail.

New hearing aids and weight check (10.36kg)

I weighed Raphael today at 10.36kg. This is a milestone for him becuase he has finally weighed more than the first weight check at the beginning of the trial (10.3kg). But before I hear you cheer too loudly, this only represents a 60g gain since 9/7/2007 (10 weeks).

Speaking of loudness, we also took Raphael to Australian hearing today to get new hearing aids for him that can supply higher volume for his left ear. Unfortunately, one of the new aids was missing the childproof battery lock and so he will have to wait for that one to be repaired. The good news is that it was the right aid that was missing the lock and so he is able to wear his old right hearing aid (with the same volume), and he can wear the new left hearing aid with the enhanced volume that his left ear needs.

New sounds

He has finally started making a couple of new sounds.

The first new sound is "ba". We think that he tries to say banana when we are feeding him a mashed up banana but he is very inconsistent with his pronunciation.

The only way I can describe the other new sound is something like: "wva-wva-wva", it is like he is saying the "w" and the "v" at the same time.

Finally able to get down from standing

Annie and I have been trying to teach Raphael how to get down from standing for more than a month now and he has finally got the knac. Thanks to a visit from his early learning teacher, who made some suggestions in our home, we setup a new play area for him and put some "half way" cussions behind him so that when/if he plopped down backwards, he would just sit on the cussions and not be frightened by the big drop.

After a week's practice of clambering around these cussions, which incidentally he is also willing to step up onto and down from, he is now able to plop backwards from other surfaces and also to bend over and bend one knee to get down. Of course he still needs to hold onto something when he is standing up, I suspect that will take some time to train him to be able to stand by himself.

Another weighing (10.29kg)

Raphael has been wolfing down the food over the past few days and so we were certain that he was going to put on weight. Instead of the usual ~600g of food that he normally eats, he has been eating over 900g each day for the last three days.

He weighed 10.29kg with is a gain of 380g. He had even done a poo just before I weighed him so it is not like he was holding in a full load to make his weight look better.

Early learning and Australian Hearing

My wife forgot about attending Early learning this morning and they called her asking if she was coming. Scrambling everything together, she was there within fifteen minutes and found that the she was the only person scheduled to attend the session that day. The whole place had been setup just for Raphael. I think that she felt quite guilty about forgetting because of this.

I certainly don't mean this to sound like I am berating my wife for forgetting; but quite the opposite. I mention it becuase this is the first appointment that we have forgotten in the hundreds of appointments that we have had. Annie has been the solely responsible for scheduling appointments with practically no help from me at all and to have only forgotten one, amongst the countless numbers that we have had, I think is amazing.

Well done Annie! I cannot think of a high enough accolade for you, you are priceless.

In the afternoon we went to Australian Hearing to have more accurate hearing tests and new molds made. His left ear is only hearing above 90-100db which places that ear in the profound hearing loss zone. His right ear is much better, being a 45-55db loss (from memory).

weighing (9.91kg)

He has been eating well so this weight loss of 230g down to 9.91kg has come as a surprise for us. We will do some kj analysis to see if he has had reduced energy intake.

Ophthalmologist and Orthoptist

An Orthoptist visit today confirmed that Raphael is not getting any usable vision from his left eye. But the good news is that his right eye seems to have good vision despite the small coloboma at the base of that eye.

There was not much to talk about with the ophthalmologist, so that was only a quick consultation. We talked about the possibilities of attaching the eye probing procedure to future surgeries because his last surgery was cancelled.

The longest part of this visit was actually trying to pay the bill, the new receptionist was hopeless, when she finally worked out what to do, she messed it up and had to do it all over again. I think it took about twenty minutes to pay the bill. I was not impressed becuase we had a tightly scheduled morning of twelve things to do at nine different locations. We still ended up managing all but two but I was so exhausted by the afternoon that I collapsed in my chair to sleep for two hours. Thank goodness that our ever-ringing phone didn't drill it's ring tone into my head while I was asleep.

Development and weight gain (10.14kg)

Today we weighed Raphael at 10.14kg (a 60g increase from last time).

Raphael has begun cruising to more difficult surfaces of different heights. He still complains about having to do it but is willing to do it if the incentive is high enough.

He has also just managed to say Mama, it is a bit garbled but he clearly pointed to his mum and made this new sound. This is the first new sound in a long time and makes his list of sound:

• "dya-dya-dya"
• "adaadaadaadaa"
• "aiyaiyaiya"
• "mama"

Mama is English and Chinese for Mum and so we are going to claim it as two new words that he has learnt. I think that he knows that am "Dada" and that his mum is "Mama" but I can't be certain about that.

Crazy heart beat

Yesterday we took Raphael to his GP and she confirmed, just as the home care nurse had said the previous day, that this was viral and could be the nasty Influenza that has been going around. We were hoping that he would not get this because he is too young to have had the Influenza vaccination and we knew that it would effect him hard. On the good side, the GP was very happy with how his lungs were sounding.

Last night at 2:30 am his heart rate raised realy high (because of his high temperature). When it past 170 beats per minute his monitor alarm went off and I grogily raised the threshold to 200, when he started to scream and his heart rate past 200 I fought off my deep sleep to see that it peaked at 224 before I disconnected his monitor and CPAP to pick him up.

It was like cuddling a boiling kettle; he was steamy hot and his racing little heart was boiling in his chest. I gave him some Panadol and some hydrolite (becuase he has really thirsty too) and eventually I was able to put him back to bed.

To the doctor

We took Raphael to his GP today because he is still having high temperatures and we also wanted our GP to fill in the medical professional component of the Companion Card form.

She told us the same that everyone else is telling us that Raphael has a viral infections and we will just have to wait it out and give him Panandol and ibuprofen when he needs it.

She is always very supportive of our applications for assistance and this was no exception. If you have a disabled child and your GP does not support you then I would suggest that you find another GP because it makes life so much easier.

Raphael is sick again

Unbelievable! I thought he had just gotten better but tonight we measured his temperature at 39.1 degrees. Some Panadol has picked up his spirits and he is sleeping at the moment.

Yet another contrast study - video fluoroscopy

Raphael had another barium swallow study test today, a video fluoroscopy. This is where they take an x-ray video of him swallowing various different textures to see what his swallow actually looks like.

Sure enough the speech pathologists called his swallow uncoordinated and there was a very clear aspiration when he was drinking thin textures, such as his Nutrini milk. There was no sign of reflux during this study but that doesn't mean that it doesn't happen at all, it just means that it didn't happen during the study.

Notably after he had a drink, later in the day, he did a massive vomit, the largest one I have ever seen him do.

Weighing today (10.08kg)

Today his weekly weighing put him at 10.08kg which is a marginal increase of 50g since last weighing.

Also today, Raphael's Early Learning Teacher and Vision consultant visited us because Raphael could not make it to the last group with his ear infection. His teacher brought a box with her that seemed to contain an endless stream of things that Raphael found intensely interesting. Raphael showed off his ability to see and demonstrated his fine motor skills by posting objects into a box and manipulating small objects with his fingers.

Companion card application

The following are the answers that we are submitting for the complicated question on the application for a companion card.

Describe your need for assistance in the areas of mobility, communication, self-care, learning and planning.
Raphael was diagnosed with CHARGE syndrome on 12/1/2007. Raphael has a number of factors caused by this syndrome that makes it difficult for him to attend community activities and events.

Raphael has respiratory problems that could potentially require immediate first aid and medical aid. Raphael has previously quickly descended into respiratory problems that have required hospitalisation on a number of occasions. Early identification of the warning signs has been important on these occasions in obtaining medical aid in time.

Raphael has propensity to vomit multiple times a week due to nerve problems. Raphael requires assistance while vomiting to ensure that it happens in a socially acceptable way (for instance, not in a public swimming pool as nearly happened on one occasion). But more importantly it is necessary to make sure that his airway is not compromised after vomiting. Equipment to cope with his vomiting (cloths, water, change of clothes, and bags) need to be taken everywhere he goes which he is not capable of carrying himself.

Raphael has no sense of balance, he is blind in his left eye and has vision problems with his right eye.

Raphael's vestibule (sense of balance) is completely malformed and he receives no useful information from this organ. Raphael currently cannot walk and, although it is hoped that physiotherapy and occupational therapy will eventually enable him to do so, his lack of depth perception and decreased field of vision will always make mobility and orientation a difficult task without the aid of someone to guide him.

Raphael has a moderate to severe hearing loss and partially paralysed vocal chords making verbal communication very difficult for him. Raphael uses hearing aids but these cannot be worn on all occasions (for example while swimming or air travel) and his external ear malformation means that hearing aids are not comfortable for him to wear for any length of time. Raphael may be able to communicate with sign language, in these instances when he does not wear his hearing aids, but this will require an interpreter to be with him.

Raphael's paediatrician has said that she only trusts a limited number of people with the care of Raphael because of his complicated medical problems: Royal Hobart Hospital Paediatric Unit, The Royal Children's Hospital (in Melbourne), and us (his parents). Even the Commonwealth Carer Respite Centre refuses to look after him because of his complicated high needs. This effectively means that he cannot go anywhere without one of us being with him.

Please provide the name, date and outcomes of any formal assessments of your condition.

Raphael was diagnosed with CHARGE syndrome by a Geneticist on 12/1/2007.

An Ophthalmologist stated that Raphael has "very limited or no useful vision in his left eye" (7/2/2007) and on 5/6/2007 another ophthalmologist advised us of another serious eye defect in Raphael's right eye that limits his field of vision in that eye.

Raphael has had a Barium Swallow on 17/5/2006 that identified significant gastro-oesophageal reflux and aspiration.

Raphael has had numerous audiological tests including ABR (Auditory Brainstem Response) and VROA (Visual Response Orientation Audiometry) tests to determine his hearing level. He has been classified as having a moderate to severe hearing loss.

Raphael had an MRI scan on 18/12/2006 that identified severe eye and ear malformations including complete deformity of the vestibular semi-circular canals (sense of balance).

Raphael has 25 medical professionals and 8 education professionals who look after his complicated case. We have a whole folder full of reports on his condition. I have summarised a very limited number of the reports here.

Medical professionals:

• Audiologist [RHH & Aus Hearing]
• Dietician
• Ear Nose and Throat Doctor (ENT) (x2)
• General Practitioner
• Geneticist
• Intensivist (x2) [RHH]
• Occupational therapist [CHC]
• Ophthalmologist (eye surgeon)
• Orthoptist [RHH]
• Osteopath
• Paediatric Anaesthetist (x2)
• Paediatric Cardiologist
• Paediatric home care nurse (x2) [RHH]
• Paediatric Surgeon
• Paediatrician
• Physiotherapist [CHC]
• Social worker [CHC]
• Speech Pathologist [RHH (x2) & CHC]

Educational Professionals:

• Deaf/Blind teacher [RIDBC]
• Gross motor skills teacher [gymbaroo]
• Hearing consultant
• Occupational therapist [ELT]
• Physiotherapist [ELT]
• Speech pathologist [ELT]
• Teacher [ELT]
• Vision consultant [ELT]

Losing power

Last night we had a live test of losing power while Raphael is connected up to his CPAP machine.

For some reason one of our electrical appliances acted up and tripped the safety switch that powers our house. The Oxygen monitor alarmed for just long enough to wake me up before its aged battery died. Floundering up from my deep sleep and trying to find my torch in the pitch black, I could hear Raphael starting to snore without the CPAP operating and so I knew that he was ok.

After calling our electrical provider and resetting our safety switch, I got back to sleep at 3:15am only to be awoken again at 3:45 by one, rather sad sounding, oxygen alarm beep as the power was cut off again. I reset the switch again and this time I was only awarded 15 minutes before the power failed again and now I couldn't reset the power switch without it immediately tripping. The next hour was spent by me hunting around the house turning off all of the power points I could think of, in my sleepy state, and resetting the safety switch. I had to try this several times until I had though of the device which was actually causing the problem.

I checked on Raphael every few minutes during this time but he happily slept through the whole thing, apparently oblivious to the lack of sleep that my concern for him was causing.

Yucky ear

This morning I went to put Raphael's hearing aid in and I found a disgusting brown goo in his ear. Yes he has an ear infection and this brown goo is apparently what you get if you have grommets that allow it to ooze out. So we have more antibiotics to give to the poor lad: eardrops (sofradex) and the regular amoxycillin.

It is also weighing day again so I weighed him while we were visiting the doctor surgery and he weighed 10.03kg. This is a respectable 210g gain since the last weighing but it is still a 270g loss since we started the trial.

Development notes

Raphael is cruising a bit more confidently now and sometimes he is willing to transfer his grip from the low table to another nearby object, but usually he will stay standing around the table until he is tired and then complains to us, because he doesn't know how to get down by himself. We have been trying to teach him how to get down but it is like trying to bend a plank of wood - except this one complains at us.

Cruising transfer:



Can't get Down:



He has become very eager to feed himself with a spoon and eat food that his older siblings are eating. This has posed a bit of a problem becuase he can now reach some of the food that his siblings eat and we have caught him putting food in his mouth on a number of occasions. Of course this makes him choke and vomit.

He is able to draw with crayons a bit now. Well by draw I mean that he can throw the piece of paper off the table and make a stripe and some hammered dots on the table where the paper used to be. This is usually followed by an attempt to chew the top off the crayon which, while isn't desirable in itself, is encouraging that he hasn't developed an oral aversion which is common in tube fed babies.

Sick and hot

We measured his temperature as 38.4c on two occasions today. Panandol made him feel a lot better on both occasions but his fluid intake is well down today. His home care nurse visited and she recommended that we give him some gastrolyte to re-hydrate him a bit becuase he would not drink water or his Nutrini (formula). He is not dehydrated yet but of course we don't want him to become that way so I went to the chemist and bought some Hydralyte (which is a re-hydration fluid like gastrolyte). He was happy to take 60ml of that from a 20ml syringe.

Another long paediatrician appointment

We had another 1.5 hour paediatrician appointment today. I have been quite sick and so it took all of my concentration to follow what was going on during this consultation, at one point the doctor asked if I felt ok because I had gone pale and broken out in a sweat.

Raphael had re-hydrated himself since his last weighing and he weighed in at as respectable 10.18kg in the hospital. Again the dietician and paediatrician are happy to continue the trial without the NGT for another month.

We are also going to have a third in-depth barium swallow to examine Raphael's swallowing mechanism.

During the consultation, our paediatrician said that we are brave parents because we are willing to explore how far Raphael can go without committing him to surgery. I have to say that there is no more effective way to crush someone's bravery by telling them how brave they are. But for me, the safest course of action (surgery and drugs) is not something that I think would make my son's life worth living. So my bravery is not grounded in bold confidence but rather in choosing the long term life benefit over the short term risks. This means that I need to take other courses of action to mitigate the short term risks.

Other topics covered:

• Weight gain, feeding, milk, solids and vomiting
• This last cold that he has had
• Aspiration risks and fundoplication
• Other CHARGE kids swallow development and reflux
• Fundraising for going to Australasian CHARGE conference next year
• List of CHARGE features from UK website. Notably
• Cranial nerves
• Gross motor skills
• Language skills
• Dental issues including teeth grinding
• Sleep sitting parasomnia (like sleep walking except Raphael can't balance standing up up and so he just sits up)

Here is a video of his sleep sitting:

Another weigh-in (9.82kg)

Today I weighed Raphael at 9.82kg. which is a loss of 380g. I am not entirely surprised because he has been sick, vomiting and not eating much over the last week. His appetite is still not good at the moment, so I don't know how the next week will be.

Still sick

After a number of evening with high temepratures and a few visits from the home care nurses, I took Raphael to see a GP today. Although his ears were ok, a throat examination showed a pussy adenoiditis. He is on antibiotics now and the good news is that although we don't have the NGT to give him the medicine, he is willing to take it by mouth with no problems.

I assume that this is on top of his cold that his his two siblings and I also have, so even if the antibiotics fix his adenoids, he will still be miserable.

How much does he weigh now? (10.2kg)

I didn't have much hope for Raphael's weight gain today because he has been grumpy and a bit off his food and last night a home care nurse visited and we took his temperature at 38.6.

But today I was surprised by the weighing. His blanket had lost 20 grams and was only 450g but he had gained a little weight and now weighs 10.2kg, that's a 60g increase.

Orientation and mobility presentation

This evening we went to an introduction to orientation and mobility (O&M) presentation done by Raphael's vision therapist at the Early Learning campus. The primary focus was for children with vision impairments but the content was still very relevant for Raphael. I am looking forwarded to working more with the vision therapist to help Raphael learn how to travel safely and take note of his environment to help him learn and play.

Half way through I was supposed to go to my Auslan course but when I got there it was all quiet and the lights were off. Then I checked my mobile phone and I found that the whole course had been cancelled due to lack of members. That was a bit disappointing because I was really enjoying that course and I was learning a lot. I will have to start to place more formalised personal structure in learning from the other resources that I have for signing.

After the O&M presentation we were given the opportunity to wear occlusion glasses that simulate Raphael's vision loss. It was an eye-opening experience (if you will pardon the pun). Even though I was aware of Raphael's vision field losses, this practical experience showed me what it was actually like to experience that vision. My most notable impression is that I can now see why people think that he has good vision by casually observing him; but I am also much more aware of what he is missing out on and how limiting it is to see what can be found in his environment. I found that my hearing would react to things that my vision would normally detect first and so I was frequently in a state of surprise. Raphael of course does not have the benefit of normal hearing and so this sense of environmental awareness is further limited for him.

After my wife and I had both had a turn we put the glasses on Raphael, first in the opposite way to his actual vision which confirmed that it effectively blinded him. He was unwilling to move anywhere and briefly made an unsuccessful groping motion with his hand to find something to touch. When we turned them around to match his vision loss he was happy to crawl around again but eventually signed "finished" to indicate that he had enough of wearing the glasses (caught on the last photo in this blog entry).

Helping with FRACP exams

Today Raphael and I went to the hospital, as requested, to volunteer as guinea-pigs for paediatric doctor candidates to examine as part of their tests to become paediatricians.

It was very interesting to see how these candidates questioned me and examined Raphael to try to obtain a full description of Raphael's condition and our family situation. More specifically it was educational for me to hear the areas that paediatricians need to cover in an initial consultation.

Raphael was classified as a long case and this meant that he was only able to be examined by the examiners and two candidates in the morning that he was there. The examiners asked us to be as helpful as possible and as forthcoming as we could be with regards to my son's condition; but when I brought out my medical summary, the examiners kindly and respectfully asked to have a look and then requested that I put it away and allow themselves and the candidates to conduct the interview and examination without referring to the documentation that I had brought with me. They suggested that it would not be helpful to the testing process if the candidates all came out of this examination with (effectively) a copy of the information that I had pre-prepared rather than teasing the information out my memory at the time. I always rely on notes to recall my memory to Raphael's condition so it was a real challenge for me to be able to describe my son's condition without my notes.

It would be nice to know how the two candidates went that examined Raphael today but I suspect that information is confidential and I won't find out. However, afterwards I spoke to a registrar who said that parents generally have a good idea as to whether a candidate would pass a particular examination or not, based on how well we thought the student got all of the information out of the parent.

Paediatrician, no-NGT review

We had a review with our paediatrician and dietician today. We brought in our ever growing list of topics that we have questions about but after more than an hour we had still only covered one topic - how he is going without his NGT.

Even though he has lost a small amount of weight, his consumption hasn't been that bad. This mixed with Raphael seeming to be very active over the last fortnight has lead our paediatrician to say that she is pleasantly surprised that he has done so well so far and is happy for us to continue the trial.

We are also planning to start to add more energy rich solids/purée to his diet in an attempt to start to introduce more variety.

Weighing again (10.14kg)

Today I took Raphael to weigh him again and he weighed in at 10.14kg. This means that he has lost another 80g. Well I suppose at least he is consistent.

His blanket is still 470g. Today I was secretly hoping that it would have been lighter so that he would have been heavier; but of course this was not the case.

On a different set of scales (at the hospital) he weighed 10.35kg on Friday. I am not relying on this to say that he has put on weight though because I want to make sure that I always weigh him bare on the same set of scales so I can compare his weight to the the previous weighings.

We have been vigilantly recording exactly what he has been eating. The two graphs indicate the volume (in ml) and energy (in kilojoules) that he has been taking each day for the last two weeks.

New CPAP mask and faulty CPAP machine

A home care nurse came today and made adjustments to a new type of mask so that it would fit Raphael and hopefully put less pressure on his face.

We don't know if it will be better or worse than the last mask (in terms of leaks) but there is one thing that is definitely better: the mask makes hardly any noise. The old mask made a "sssssssss" sound where the air came out of the escape vents but this new ones vents are completely silent.

On another note, we have been told that our model of CPAP machine has been recalled due to a manufacturing fault. We were asked to return the CPAP machine to the hospital and pick up a replacement but, on further prying, it may be the case that they won't have a machine waiting to replace the one that we bring back and so we don't know how long he would have to be without one.

We trialled Raphael without CPAP last night while we were away from home and we didn't hear any complete obstructions but we could hear that his airway was very narrow and it was hard work for him to breath while he was sleeping.

Because of this experience, we are not keen on Raphael being without his CPAP machine for more than a night. We are hoping that our home care team will be able to arrange a new machine for us before we return the reportedly faulty machine.

Intensivists

Today we went to have a consultation with two Intensivists and a home care nurse at the hospital. We are still happy to proceed with the CPAP at home even though it does make for very interrupted sleep.

We also talked about the possibility of facial deformity because of the CPAP straps and discussed attempting to use a different type of mask that reduces the pressure. We are planning to try to fit this mask on Sunday night.

Measuring up for a rail

Today Raphael's Occupational Therapist visited to measure him up to find out what height rails would be needed for our front steps.

Our front steps are quite high and it is expected that his balance problems will cause him great difficulty in getting down them so we are looking at the possibility of installing a rail so that he will be able to get down the steps easily. We are hoping that disability services will fund the installation of the rail for us, but there are no guarantees of this.

Weight gain, development and another cold (10.22kg)

This morning I excitedly pushed Raphael in his pram to the local doctor surgery to weigh him again. Over the last seven days he has taken an average of well over 500ml by mouth (of mostly Nutrini high energy multi fibre) each day. This is only 50ml per day less than his total intake when we were using the overnight NGT feeds so I was confident that he would have put on quite a bit of weight.

I stripped his clothes off like last time to weigh him but this was not very popular this time. Maybe it had something to do with the weather (it was freezing cold). I carefully weighed him, and the blanket that he was sitting on, and then came up with his total weight being 10.22kg. That is 80g less than last time . I can't explain why he has not put on weight considering how much he has eaten! Because he was so distressed, being naked on the scales, I clothed him and balanced him back on the scales to take this photo of him.

On the up side, while we were at our first aid course at early learning today Raphael "cruised" by himself without anyone's hand to hold onto. He did need some encouragement from his mean dad who kept on taking his toys away from him and putting them out of his reach; forcing him to cruise to the toys.

While he has been sleeping, his breathing has been poor over the last day and a half. He seems to be very congested. At the moment his saturations are only 90% and we are waiting for the home care nurse to arrive tonight to have a look at him and possible raise his CPAP to a higher level.

Development observations

Raphael has recently started tall kneeling (kneeling with his thighs perpendicular to the floor) without holding on to anything for a couple of seconds at a time. He seems to be confident with this but then always reaches to grab hold of me before he has any chance of falling.

He has just recently started to sign "time" back to us when we sign "bed" "time" to him and put him in bed. "Time" is a complicated sign but he does a pretty good job of it with a pointed finger and two hands.

On the other hand he uses "finished" less frequently now and is more likely just to turn away from food offered to him. If asked if he is all done then he will enthusiastically sign finished (two handed) to confirm his desire not to eat any more. Also he has begin to use a one handed "finished" sign to indicate that he is having a good time so it can be a bit of a challenge to work out what he really wants. If he is signing "finished" and turns away from food when offered then that is the message that he does not want to eat any more.

Summary so far

The following article was written for the Australasian CHARGE Syndrome Association newsletter. I have included it here for those who do not get access to those newsletters.

My name is Paul Bartlett, my third child was born on 18/3/2006. We already had names selected for a girl or a boy and so we instantly know what to call him. Raphael Shalom Bartlett came into the world with raspy, gurgly breathing (stridor), a crooked mouth and a funny ear but that didn’t stop us from instantly loving him.

Everyone told us that a lot of babies have stridors and facial palsy and that we could probably expect it to clear up in a few days. After a few days he still had the same little peculiarities and people comments turned to "it will probably clear up in the first few weeks". After a few weeks the predictions turned to "a few months" but by this time another problem had become to surface. Before he was three months old we visited a paediatrician because he wasn't putting on weight fast enough. This referred onto an ENT and barium swallow x-ray in the same day. Back then I thought (naively) that having three medical appointments in one day was probably some kind of record.

More work ensued over the following months looking for the reason that he was not putting on weight and trying different things to get Raphael to gain weight culminating in final success with placement of an NGT (NasoGastric Tube) to supplement his feeding by mouth. During this time we had an echo cardiograph that looked for vascular rings around his oesophagus. There wasn't one but it found a small ASD (Atrial Septal Defect) to add to his list of problems. His osteopath, who was trying to therapeutically resolve his facial palsy, noticed a difference in Raphael's eyes which was ultimately diagnosed as being a microphthalmus (small eye) with a large coloboma of the optic disc and retina. Later, a trip to an audiologist revealed that Raphael had hearing problems and the list of issues was beginning to form a small mountain of reports and letters detailing Raphael's problems.

Eventually an MRI was performed on his head and chest to try to find out what was going on inside him. The anaesthetic gave him a rough time but no permanent damage was done. The MRI revealed yet another problem with his vestibular semi-circular canals (which provides a sense of balance). This was enough for the geneticist to make the diagnosis of CHARGE syndrome for Raphael. He indicated to us that this was a very rare condition and according to his database this is the first case in Tasmania.

Researching on the web for any information on CHARGE syndrome, we came across information that seemed to match other issues that we had noticed in Raphael but previously had not considered them to be important. We found excellent sources of information from the CHARGE Syndrome Association of Australasia, the CHARGE Syndrome Foundation (US), the CHARGE Syndrome Listserv (US) and CHARGE Family Support Group (UK). Their websites, published documents and parent contributions have given us excellent sources of information and platforms for questions to our medical consultants.

So the number of appointment started to grow. Adding to the early intervention and therapy appointments came a bunch of tests to look for the other known potential problems with CHARGE syndrome. Three appointments in one day was no longer a record for us and it was becoming the norm. To date our record number of appointments in one day is eight.

I tell Raphael's full story on a blog that I keep about him. You can find it at http://raphaelincharge.blogspot.com/